Incidental Mutation 'R6764:Gsn'
| ID |
531803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsn
|
| Ensembl Gene |
ENSMUSG00000026879 |
| Gene Name |
gelsolin |
| Synonyms |
|
| MMRRC Submission |
044880-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R6764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
35146392-35197904 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35174056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 55
(Y55C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028239]
[ENSMUST00000139867]
[ENSMUST00000142324]
[ENSMUST00000201185]
[ENSMUST00000202899]
[ENSMUST00000202990]
|
| AlphaFold |
P13020 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028239
AA Change: Y93C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: Y93C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
GEL
|
64 |
162 |
7.31e-30 |
SMART |
|
GEL
|
183 |
275 |
1.53e-32 |
SMART |
|
GEL
|
299 |
394 |
2.59e-30 |
SMART |
|
GEL
|
443 |
540 |
9.28e-32 |
SMART |
|
GEL
|
561 |
646 |
1.67e-24 |
SMART |
|
GEL
|
666 |
761 |
4.04e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139867
AA Change: Y55C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144217
Gene: ENSMUSG00000026879
AA Change: Y55C
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
26 |
124 |
4.9e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142324
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879
AA Change: Y44C
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
15 |
113 |
7.31e-30 |
SMART |
|
GEL
|
134 |
226 |
1.53e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201185
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: Y44C
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
15 |
113 |
4.9e-32 |
SMART |
|
GEL
|
134 |
226 |
9.6e-35 |
SMART |
|
GEL
|
250 |
345 |
1.6e-32 |
SMART |
|
GEL
|
394 |
491 |
5.8e-34 |
SMART |
|
GEL
|
512 |
597 |
1.1e-26 |
SMART |
|
GEL
|
617 |
712 |
2.7e-34 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202899
AA Change: Y44C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879
AA Change: Y44C
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
15 |
113 |
4.9e-32 |
SMART |
|
GEL
|
134 |
226 |
9.6e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202990
AA Change: Y55C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: Y55C
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
26 |
124 |
4.9e-32 |
SMART |
|
GEL
|
145 |
237 |
9.6e-35 |
SMART |
|
GEL
|
261 |
356 |
1.6e-32 |
SMART |
|
GEL
|
405 |
502 |
5.8e-34 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system. In addition, there are background related effects on viability and mammary gland development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
G |
T |
11: 53,290,657 (GRCm39) |
R539L |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,389,441 (GRCm39) |
Y1147N |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,019,970 (GRCm39) |
F423L |
probably damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,181 (GRCm39) |
D571E |
probably benign |
Het |
| Bank1 |
A |
G |
3: 135,948,701 (GRCm39) |
S159P |
probably damaging |
Het |
| Bcan |
C |
A |
3: 87,895,685 (GRCm39) |
R817L |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,304,014 (GRCm39) |
S1990P |
possibly damaging |
Het |
| Ccna1 |
G |
A |
3: 54,953,499 (GRCm39) |
T368M |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,038,056 (GRCm39) |
|
probably null |
Het |
| Ctbp1 |
T |
C |
5: 33,416,589 (GRCm39) |
H136R |
possibly damaging |
Het |
| Dner |
T |
G |
1: 84,472,502 (GRCm39) |
D366A |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,113,770 (GRCm39) |
S1307P |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,966,402 (GRCm39) |
N720K |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,355,560 (GRCm39) |
E667G |
unknown |
Het |
| Gm4846 |
A |
G |
1: 166,319,121 (GRCm39) |
C206R |
probably benign |
Het |
| Grpel1 |
G |
A |
5: 36,622,569 (GRCm39) |
R11H |
probably benign |
Het |
| Hephl1 |
G |
A |
9: 15,000,217 (GRCm39) |
T345I |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,103,605 (GRCm39) |
K1150N |
probably benign |
Het |
| Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
| Musk |
T |
C |
4: 58,354,027 (GRCm39) |
V360A |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,314,185 (GRCm39) |
|
probably benign |
Het |
| Ninj2 |
G |
T |
6: 120,175,011 (GRCm39) |
A51S |
probably benign |
Het |
| Nscme3l |
A |
G |
19: 5,552,900 (GRCm39) |
S294P |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,732 (GRCm39) |
Y182H |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,059 (GRCm39) |
F916S |
probably damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,188,238 (GRCm39) |
M194L |
probably benign |
Het |
| Sigirr |
C |
T |
7: 140,673,155 (GRCm39) |
V99I |
probably benign |
Het |
| Smco2 |
A |
G |
6: 146,772,827 (GRCm39) |
D343G |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,674,234 (GRCm39) |
I584T |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,179,011 (GRCm39) |
Q4488* |
probably null |
Het |
| Tbc1d24 |
A |
C |
17: 24,404,754 (GRCm39) |
F130C |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,686,340 (GRCm39) |
V296A |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,780,460 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,046 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,552,695 (GRCm39) |
S854P |
probably damaging |
Het |
| Zfp330 |
C |
T |
8: 83,493,934 (GRCm39) |
C109Y |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,759,175 (GRCm39) |
G498D |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,105,996 (GRCm39) |
D29G |
probably damaging |
Het |
|
| Other mutations in Gsn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00797:Gsn
|
APN |
2 |
35,174,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02119:Gsn
|
APN |
2 |
35,192,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Gsn
|
APN |
2 |
35,173,962 (GRCm39) |
nonsense |
probably null |
|
|
IGL02550:Gsn
|
APN |
2 |
35,172,619 (GRCm39) |
intron |
probably benign |
|
|
IGL02975:Gsn
|
APN |
2 |
35,194,666 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03061:Gsn
|
APN |
2 |
35,172,471 (GRCm39) |
intron |
probably benign |
|
|
R0321:Gsn
|
UTSW |
2 |
35,180,408 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0454:Gsn
|
UTSW |
2 |
35,194,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Gsn
|
UTSW |
2 |
35,196,598 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1760:Gsn
|
UTSW |
2 |
35,174,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Gsn
|
UTSW |
2 |
35,191,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Gsn
|
UTSW |
2 |
35,180,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Gsn
|
UTSW |
2 |
35,180,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Gsn
|
UTSW |
2 |
35,173,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2495:Gsn
|
UTSW |
2 |
35,193,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Gsn
|
UTSW |
2 |
35,173,965 (GRCm39) |
missense |
probably benign |
|
|
R3896:Gsn
|
UTSW |
2 |
35,192,650 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4003:Gsn
|
UTSW |
2 |
35,173,995 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4006:Gsn
|
UTSW |
2 |
35,197,633 (GRCm39) |
nonsense |
probably null |
|
|
R4281:Gsn
|
UTSW |
2 |
35,188,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Gsn
|
UTSW |
2 |
35,180,432 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4692:Gsn
|
UTSW |
2 |
35,188,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Gsn
|
UTSW |
2 |
35,173,912 (GRCm39) |
splice site |
probably null |
|
|
R4895:Gsn
|
UTSW |
2 |
35,192,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Gsn
|
UTSW |
2 |
35,188,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Gsn
|
UTSW |
2 |
35,188,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5290:Gsn
|
UTSW |
2 |
35,186,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6472:Gsn
|
UTSW |
2 |
35,180,463 (GRCm39) |
splice site |
probably null |
|
|
R7018:Gsn
|
UTSW |
2 |
35,183,518 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7036:Gsn
|
UTSW |
2 |
35,182,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Gsn
|
UTSW |
2 |
35,185,061 (GRCm39) |
nonsense |
probably null |
|
|
R7122:Gsn
|
UTSW |
2 |
35,185,061 (GRCm39) |
nonsense |
probably null |
|
|
R7183:Gsn
|
UTSW |
2 |
35,184,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7203:Gsn
|
UTSW |
2 |
35,188,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7456:Gsn
|
UTSW |
2 |
35,172,718 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7488:Gsn
|
UTSW |
2 |
35,186,433 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7880:Gsn
|
UTSW |
2 |
35,173,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Gsn
|
UTSW |
2 |
35,182,659 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9472:Gsn
|
UTSW |
2 |
35,182,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Gsn
|
UTSW |
2 |
35,186,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9568:Gsn
|
UTSW |
2 |
35,174,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9777:Gsn
|
UTSW |
2 |
35,194,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAGACCCACACTTCTG -3'
(R):5'- GCTGCAGAAGGGTAGATCAC -3'
Sequencing Primer
(F):5'- TGAGACCCACACTTCTGCTCAG -3'
(R):5'- AGCTGGGATCTGAACCTGTAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation